Variant (rsID / SNP)

rs36045913

rs36045913 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCF. Location: chromosome 11, position 22,646,532. Clinical significance in the table: Benign.

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Reference-table entries

FANCFBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:22646532
Cytoband: 11p14.3
HGVS: NM_022725.4(FANCF):c.825G>A (p.Leu275=)
Allele change: Synonymous_L275L

Associated conditions / phenotypes

Fanconi anemia|Fanconi anemia complementation group F

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.